Iwafuchi Yoichi, Morioka Tetsuo, Oyama Yuko, Goto Shin, Narita Ichiei
Department of Internal Medicine, Koseiren Sanjo General Hospital, 5-1-62 Tsukanome, Sanjo 955-0055, Japan.
Department of Internal Medicine, Kidney Center, Shinrakuen Hospital, 3-3-11 Shindoriminami Nishi-ku, Niigata 950-2087, Japan.
Case Rep Nephrol. 2021 Oct 25;2021:2519918. doi: 10.1155/2021/2519918. eCollection 2021.
We report the case of a patient with gene variant, who developed thrombotic microangiopathy on a mixed clinical background. A 79-year-old woman was transferred to Sanjo General Hospital for maintenance hemodialysis. She suffered from gastric non-Hodgkin lymphoma about two years ago and received chemotherapy and radiation therapy, leading to complete remission. About 13 weeks prior to her transfer to our hospital, she was referred to another hospital due to acute kidney injury, hemolytic anemia, and thrombocytopenia. Hemodialysis was immediately initiated, after which intravenous methylprednisolone and oral prednisolone were started; however, she became anuric within approximately week. The possibility of thrombotic microangiopathy was examined. However, she was in poor general condition and did not get the consent of her family, so no invasive searches such as a kidney biopsy were performed. Despite the cause of acute kidney insufficiency being unclear, she was transferred to us for maintenance hemodialysis. Her general condition was stable, and her renal function improved; hence, two months after transfer, a kidney biopsy was performed. Her clinical and typical renal histological findings indicated a diagnosis of thrombotic microangiopathy. There was a possible CFH gene of a very rare variant "c.526 T > (p.Phe176Leu)" in exon 5. She was able to withdraw from hemodialysis therapy two weeks after the initiation of an angiotensin-converting enzyme inhibitor. Based on her clinical course and kidney biopsy findings, she was diagnosed with thrombotic microangiopathy with a very rare CFH variant. To ensure proper treatment choices such as eculizumab, the presence of complement dysregulation should be considered in cases of secondary thrombotic microangiopathy.
我们报告了一例具有基因变异的患者，该患者在混合临床背景下发生了血栓性微血管病。一名79岁女性因维持性血液透析被转至三条综合医院。她大约两年前患有胃非霍奇金淋巴瘤，接受了化疗和放疗，实现了完全缓解。在转至我院前约13周，她因急性肾损伤、溶血性贫血和血小板减少被转诊至另一家医院。立即开始血液透析，之后开始静脉注射甲泼尼龙和口服泼尼松龙；然而，她在大约一周内无尿。对血栓性微血管病的可能性进行了检查。然而，她的一般状况较差，未获得家属同意，因此未进行肾活检等侵入性检查。尽管急性肾功能不全的病因不明，但她仍被转至我院进行维持性血液透析。她的一般状况稳定，肾功能有所改善；因此，转院两个月后进行了肾活检。她的临床和典型肾脏组织学表现提示诊断为血栓性微血管病。外显子5中存在一种非常罕见的变异“c.526 T > （p.Phe176Leu）”的CFH基因可能性。在开始使用血管紧张素转换酶抑制剂两周后，她能够停止血液透析治疗。根据她的临床病程和肾活检结果，她被诊断为具有非常罕见CFH变异的血栓性微血管病。对于继发性血栓性微血管病病例，为确保做出如依库珠单抗等恰当的治疗选择，应考虑补体调节异常的存在。
